multiple congenital anomalies-hypotonia-seizures syndrome 3

Summary

DOID:0080140 - multiple congenital anomalies-hypotonia-seizures syndrome 3

Disease Ontology Definition:A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.

Synonyms: light fixation seizure syndrome, M syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pigt

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014165 - multiple congenital anomalies-hypotonia-seizures syndrome 3

MONDO:0014165 - multiple congenital anomalies-hypotonia-seizures syndrome 3

MIM:

MIM:603530 - MOVED TO 615398
MIM:615398 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

MIM:603530 - MOVED TO 615398

MIM:615398 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), multiple congenital anomalies-hypotonia-seizures syndrome (is_a), syndrome (is_a)